A Novel Single Nucleotide Polymorphism of INSR Gene for Polycystic Ovary Syndrome

Overview

Journal Fertil Steril

Specialty Reproductive Medicine

Date 2007 Jul 31

PMID 17658524

Citations 21

Authors

Eung-Ji Lee

Bermseok Oh

Jong-Young Lee

Kuchan Kimm

Sook-Hwan Lee

Kwang-Hyun Baek

Affiliations

Soon will be listed here.

Abstract

Objective: To investigate several single nucleotide polymorphisms (SNPs) in the insulin receptor (INSR) gene that have significant associations with pathogenesis of polycystic ovary syndrome (PCOS) in a Korean population.

Design: Case-control study.

Setting: University-based hospital.

Patient(s): 134 patients with PCOS and 100 healthy women as controls.

Intervention(s): All exons of INSR in DNA samples from 100 healthy women and 134 women with PCOS were sequenced and compared.

Main Outcome Measure(s): Frequencies of genotypes for several SNPs in INSR gene that were found as specifically expressed SNPs in a Korean population.

Result(s): Among nine SNPs analyzed in a large population, the genotypic frequencies of eight SNPs were similar, and they had no statistically significant association with PCOS. However, the frequency of a minor allele for one novel SNP, +176477 C>T, was higher in the control group than the patient group.

Conclusion(s): Among the analyzed SNPs, +176477 C>T, a novel SNP in the INSR gene, was associated with the pathogenesis of PCOS in a Korean population.

Citing Articles

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Su P, Chen C, Sun Y J Ovarian Res. 2025; 18(1):34.

PMID: 39980043 PMC: 11841159. DOI: 10.1186/s13048-025-01621-6.

Metabolic and hormonal profiling in polycystic ovarian syndrome: insights into INSR gene variations.

Rasheed R, Rasheed P, Ali A Mol Biol Rep. 2024; 51(1):989.

PMID: 39287700 DOI: 10.1007/s11033-024-09924-5.

Insights into Vitamin E with Combined Oral Contraceptive on INSR Gene in PCOS by Integrating In Silico and In Vivo Approaches.

Begum R, Mohan S Appl Biochem Biotechnol. 2023; 196(6):2990-3009.

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Relationship Between Genetic Polymorphisms in Cell Cycle Regulatory Gene TP53 and Polycystic Ovarian Syndrome: A Case-Control Study and In Silico Analyses.

Biglari-Zadeh G, Sargazi S, Mohammadi M, Ghasemi M, Majidpour M, Saravani R Biochem Genet. 2023; 61(5):1827-1849.

PMID: 36856940 DOI: 10.1007/s10528-023-10349-1.

Insulin resistance in polycystic ovary syndrome across various tissues: an updated review of pathogenesis, evaluation, and treatment.

Zhao H, Zhang J, Cheng X, Nie X, He B J Ovarian Res. 2023; 16(1):9.

PMID: 36631836 PMC: 9832677. DOI: 10.1186/s13048-022-01091-0.